Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia.
D000367:Age Factors; D002462:Cell Membrane / Q000378:metabolism; D003680:Deglutition Disorders / Q000235:genetics*; D005192:Family Health; D005260:Female; D005770:Gastrointestinal Neoplasms / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D013997:Time Factors
D019009:Proto-Oncogene Proteins c-kit